Linked Data
dbSNP Id:
rs776644528
ExAC:
5:177031307 G / T
gnomAD v2:
5-177031307-G-T
gnomAD v3:
5-177604306-G-T
gnomAD v4:
5-177604306-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604306G>T , CM000667.2:g.177604306G>T | GRCh38 |
| NC_000005.9:g.177031307G>T , CM000667.1:g.177031307G>T | GRCh37 |
| NC_000005.8:g.176963913G>T | NCBI36 |
| NG_015977.1:g.9189G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.178G>T MANE Select | ENSP00000029410.5:p.Ala60Ser | |
| ENST00000029410.9:c.178G>T | ENSP00000029410.5:p.Ala60Ser | |
| ENST00000502420.1:n.157G>T | ||
| ENST00000505433.5:c.178G>T | ENSP00000425591.1:p.Ala60Ser | |
| ENST00000505468.1:c.-165G>T | ENSP00000420886.1:n.-165G>T | |
| ENST00000510761.1:c.-165G>T | ENSP00000423438.1:n.-165G>T | |
| NM_007255.2:c.178G>T | NP_009186.1:p.Ala60Ser | |
| XM_005265805.2:c.-165G>T | XP_005265862.1:n.-165G>T | |
| XM_006714816.2:c.-322G>T | XP_006714879.1:n.-322G>T | |
| XM_011534421.1:c.-165G>T | XP_011532723.1:n.-165G>T | |
| XM_006714816.4:c.-322G>T | XP_006714879.1:n.-322G>T | |
| XM_017008999.2:c.-165G>T | XP_016864488.1:n.-165G>T | |
| NM_007255.3:c.178G>T MANE Select | NP_009186.1:p.Ala60Ser |